ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.957G>A (p.Leu319=) (rs36047324)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127417 SCV000170980 benign not specified 2013-06-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000967794 SCV001115213 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001914 SCV001159668 benign Pyruvate dehydrogenase E3-binding protein deficiency 2019-04-05 criteria provided, single submitter clinical testing

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